rs104894229
|
|
73
|
0.564 |
0.600 |
11 |
534289 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
9 |
2005 |
2009 |
rs137854544
|
|
10
|
0.827 |
0.320 |
20 |
45894040 |
missense variant
|
T/A
|
snv |
3.6E-05
|
4.9E-05
|
0.700 |
1.000 |
3 |
1996 |
2014 |
rs875989777
|
|
9
|
0.851 |
0.320 |
20 |
45894704 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
1.000 |
3 |
1996 |
2014 |
rs1057516264
|
|
13
|
0.776 |
0.280 |
11 |
6614968 |
frameshift variant
|
C/-;CC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057518644
|
|
10
|
0.925 |
0.120 |
8 |
43192413 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518913
|
|
7
|
0.851 |
0.320 |
9 |
137762822 |
splice donor variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060499681
|
|
6
|
0.882 |
0.200 |
12 |
101764303 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1060499684
|
|
4
|
0.882 |
0.200 |
12 |
101753525 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1060499691
|
|
2
|
1.000 |
0.160 |
16 |
1361802 |
splice region variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085307993
|
|
53
|
0.716 |
0.440 |
5 |
161331056 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs112543062
|
|
6
|
0.851 |
0.280 |
12 |
101770161 |
missense variant
|
T/C;G
|
snv |
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs140119177
|
|
7
|
0.851 |
0.160 |
9 |
93447639 |
missense variant
|
G/A
|
snv |
6.8E-05
|
2.2E-04
|
0.700 |
|
0 |
|
|
rs1554901898
|
|
12
|
0.776 |
0.280 |
11 |
6616858 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555269154
|
|
7
|
0.851 |
0.280 |
12 |
101761307 |
frameshift variant
|
-/CTTTGTGA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555269488
|
|
4
|
0.882 |
0.200 |
12 |
101764241 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555271865
|
|
5
|
0.925 |
0.160 |
12 |
101786204 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555565492
|
|
18
|
0.776 |
0.160 |
17 |
17795417 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1563322318
|
|
4
|
0.925 |
0.120 |
8 |
9018335 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1568486679
|
|
5
|
0.882 |
0.080 |
19 |
11021755 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs200661329
|
|
48
|
0.708 |
0.440 |
16 |
576255 |
splice donor variant
|
G/A;C
|
snv |
5.7E-05
|
|
0.700 |
|
0 |
|
|
rs201128942
|
|
5
|
0.851 |
0.120 |
6 |
85547112 |
stop gained
|
C/A;T
|
snv |
2.4E-05
|
4.2E-05
|
0.700 |
|
0 |
|
|
rs281864996
|
|
10
|
0.807 |
0.280 |
12 |
101764363 |
frameshift variant
|
CTTTT/-;CTTTTCTTTT
|
delins |
2.8E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs387907145
|
|
36
|
0.695 |
0.440 |
16 |
4800548 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|